Incidental Mutation 'R1741:Pgm1'
ID 265949
Institutional Source Beutler Lab
Gene Symbol Pgm1
Ensembl Gene ENSMUSG00000025791
Gene Name phosphoglucomutase 1
Synonyms Pgm1a, Pgm2, 2610020G18Rik, Pgm-2
MMRRC Submission 039773-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.652) question?
Stock # R1741 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 99786648-99844491 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 99822062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058351] [ENSMUST00000102783]
AlphaFold Q9D0F9
Predicted Effect probably null
Transcript: ENSMUST00000058351
SMART Domains Protein: ENSMUSP00000061227
Gene: ENSMUSG00000025791

DomainStartEndE-ValueType
Pfam:PGM_PMM_I 14 158 1.7e-42 PFAM
Pfam:PGM_PMM_II 193 301 3.3e-20 PFAM
Pfam:PGM_PMM_III 306 420 1.1e-33 PFAM
Pfam:PGM_PMM_IV 436 543 1.1e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000102783
SMART Domains Protein: ENSMUSP00000099844
Gene: ENSMUSG00000025791

DomainStartEndE-ValueType
Pfam:PGM_PMM_I 32 176 2.3e-37 PFAM
Pfam:PGM_PMM_II 211 319 1.2e-19 PFAM
Pfam:PGM_PMM_III 324 438 3.7e-33 PFAM
Pfam:PGM_PMM_IV 455 561 3.6e-8 PFAM
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034E13Rik A G 18: 52,793,578 (GRCm39) N37S probably damaging Het
Acad10 T C 5: 121,785,899 (GRCm39) K230R probably damaging Het
Actl7a A G 4: 56,744,252 (GRCm39) N260D probably benign Het
Adam24 T C 8: 41,132,642 (GRCm39) Y37H probably benign Het
Ahcy G A 2: 154,906,154 (GRCm39) A229V probably benign Het
Ap3b2 A G 7: 81,117,347 (GRCm39) V563A possibly damaging Het
Bcl9l T A 9: 44,420,986 (GRCm39) M1427K probably damaging Het
Btf3 C T 13: 98,452,804 (GRCm39) M1I probably null Het
Btg4 A T 9: 51,027,910 (GRCm39) I27L probably benign Het
Ccdc171 A G 4: 83,539,076 (GRCm39) Y366C probably damaging Het
Chd3 A G 11: 69,246,480 (GRCm39) Y1085H probably damaging Het
Cnot10 T C 9: 114,426,892 (GRCm39) D616G possibly damaging Het
Crlf1 C A 8: 70,953,556 (GRCm39) D243E probably damaging Het
Cyp2b23 A G 7: 26,372,502 (GRCm39) V371A possibly damaging Het
Dennd2a A G 6: 39,470,091 (GRCm39) S534P probably damaging Het
Eln A G 5: 134,758,038 (GRCm39) V185A unknown Het
Epor C T 9: 21,871,067 (GRCm39) G301D probably damaging Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Fbxl21 A T 13: 56,684,915 (GRCm39) T340S probably benign Het
Fcgbpl1 G T 7: 27,857,279 (GRCm39) C2209F probably damaging Het
Fez1 T A 9: 36,755,029 (GRCm39) D9E probably damaging Het
Fsip2 T C 2: 82,820,256 (GRCm39) F5330L probably benign Het
Glis1 G A 4: 107,425,544 (GRCm39) R197Q probably damaging Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gpr158 A G 2: 21,832,359 (GRCm39) N1153S probably benign Het
Gramd4 T C 15: 85,975,730 (GRCm39) probably null Het
Hhatl T A 9: 121,618,125 (GRCm39) Y210F possibly damaging Het
Hltf T C 3: 20,140,352 (GRCm39) W422R probably damaging Het
Hspa5 T C 2: 34,662,704 (GRCm39) S87P possibly damaging Het
Il21 T C 3: 37,281,811 (GRCm39) H111R probably benign Het
Ip6k1 G A 9: 107,918,183 (GRCm39) G73S probably benign Het
Kdm5b A G 1: 134,545,755 (GRCm39) D972G possibly damaging Het
Kif21b C T 1: 136,083,880 (GRCm39) A709V probably damaging Het
Kmt2d T C 15: 98,743,115 (GRCm39) probably benign Het
Lrrc14b A G 13: 74,511,705 (GRCm39) L125P probably damaging Het
Mapk8ip3 A G 17: 25,118,828 (GRCm39) S1169P probably damaging Het
Me3 A T 7: 89,501,041 (GRCm39) Y584F probably damaging Het
Mxra7 T G 11: 116,707,070 (GRCm39) probably null Het
Nf1 T C 11: 79,334,757 (GRCm39) S870P probably benign Het
Npr2 G A 4: 43,643,350 (GRCm39) G525S probably damaging Het
Nyap1 A T 5: 137,731,387 (GRCm39) S726T probably damaging Het
Padi4 A G 4: 140,473,481 (GRCm39) V652A probably damaging Het
Pclo A G 5: 14,726,524 (GRCm39) probably benign Het
Piezo2 A G 18: 63,154,244 (GRCm39) S2512P probably damaging Het
Ptbp3 A T 4: 59,482,624 (GRCm39) D386E probably damaging Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Ptpn3 A G 4: 57,254,922 (GRCm39) V154A probably damaging Het
Rassf4 T C 6: 116,616,450 (GRCm39) E287G probably damaging Het
Rnh1 C T 7: 140,743,936 (GRCm39) R174H probably benign Het
Scn9a T A 2: 66,317,938 (GRCm39) I1517F probably damaging Het
Sftpb C A 6: 72,282,797 (GRCm39) A90E probably benign Het
Slc39a14 T C 14: 70,556,193 (GRCm39) K61R probably damaging Het
Tmem132d A C 5: 127,861,922 (GRCm39) M733R probably benign Het
Tmem248 A G 5: 130,265,664 (GRCm39) I156V probably benign Het
Traf2 T C 2: 25,414,495 (GRCm39) D339G probably damaging Het
Trappc11 A G 8: 47,982,362 (GRCm39) probably null Het
Tuba8 T A 6: 121,199,727 (GRCm39) I137N possibly damaging Het
Txlnb A G 10: 17,714,695 (GRCm39) T376A probably damaging Het
Usp34 A G 11: 23,314,103 (GRCm39) T663A probably benign Het
Vmn2r26 T A 6: 124,038,431 (GRCm39) F669I probably damaging Het
Wdr95 G A 5: 149,518,861 (GRCm39) probably null Het
Wfdc8 T G 2: 164,450,789 (GRCm39) probably benign Het
Zfp64 A C 2: 168,768,238 (GRCm39) V458G probably benign Het
Zfp868 C T 8: 70,064,519 (GRCm39) G272D probably damaging Het
Other mutations in Pgm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01302:Pgm1 APN 4 99,786,803 (GRCm39) missense probably damaging 1.00
IGL01468:Pgm1 APN 4 99,819,367 (GRCm39) missense possibly damaging 0.82
IGL02013:Pgm1 APN 4 99,841,158 (GRCm39) splice site probably benign
IGL02237:Pgm1 APN 4 99,820,707 (GRCm39) splice site probably benign
IGL02945:Pgm1 APN 4 99,818,731 (GRCm39) missense probably benign
IGL03201:Pgm1 APN 4 99,827,236 (GRCm39) missense probably damaging 0.99
IGL03373:Pgm1 APN 4 99,818,741 (GRCm39) missense probably damaging 1.00
R0349:Pgm1 UTSW 4 99,820,814 (GRCm39) missense probably damaging 1.00
R0683:Pgm1 UTSW 4 99,818,740 (GRCm39) missense probably damaging 0.99
R1650:Pgm1 UTSW 4 99,819,276 (GRCm39) missense probably benign 0.28
R1650:Pgm1 UTSW 4 99,819,267 (GRCm39) missense possibly damaging 0.70
R1759:Pgm1 UTSW 4 99,824,305 (GRCm39) missense probably damaging 1.00
R1843:Pgm1 UTSW 4 99,818,675 (GRCm39) missense probably damaging 1.00
R3111:Pgm1 UTSW 4 99,813,222 (GRCm39) missense probably benign
R4115:Pgm1 UTSW 4 99,819,348 (GRCm39) nonsense probably null
R4426:Pgm1 UTSW 4 99,819,337 (GRCm39) missense probably benign 0.04
R4748:Pgm1 UTSW 4 99,839,176 (GRCm39) missense probably benign 0.24
R4910:Pgm1 UTSW 4 99,820,724 (GRCm39) missense probably damaging 1.00
R4920:Pgm1 UTSW 4 99,843,930 (GRCm39) missense probably damaging 1.00
R5289:Pgm1 UTSW 4 99,824,266 (GRCm39) missense probably damaging 1.00
R5764:Pgm1 UTSW 4 99,822,043 (GRCm39) missense probably damaging 1.00
R6199:Pgm1 UTSW 4 99,836,151 (GRCm39) missense probably damaging 1.00
R6311:Pgm1 UTSW 4 99,827,237 (GRCm39) missense possibly damaging 0.93
R6600:Pgm1 UTSW 4 99,824,259 (GRCm39) nonsense probably null
R6818:Pgm1 UTSW 4 99,820,763 (GRCm39) missense probably damaging 1.00
R6892:Pgm1 UTSW 4 99,786,905 (GRCm39) missense probably benign
R6984:Pgm1 UTSW 4 99,786,851 (GRCm39) missense probably benign 0.04
R7429:Pgm1 UTSW 4 99,813,192 (GRCm39) start codon destroyed probably null
R7430:Pgm1 UTSW 4 99,813,192 (GRCm39) start codon destroyed probably null
R8017:Pgm1 UTSW 4 99,843,875 (GRCm39) missense probably benign 0.00
R8019:Pgm1 UTSW 4 99,843,875 (GRCm39) missense probably benign 0.00
R8143:Pgm1 UTSW 4 99,824,415 (GRCm39) splice site probably null
R8724:Pgm1 UTSW 4 99,786,964 (GRCm39) missense probably benign 0.00
R8893:Pgm1 UTSW 4 99,824,297 (GRCm39) missense probably damaging 0.99
R9062:Pgm1 UTSW 4 99,843,954 (GRCm39) missense probably damaging 1.00
R9260:Pgm1 UTSW 4 99,827,186 (GRCm39) missense probably damaging 1.00
R9513:Pgm1 UTSW 4 99,841,242 (GRCm39) missense probably damaging 1.00
R9632:Pgm1 UTSW 4 99,843,918 (GRCm39) missense probably damaging 1.00
R9710:Pgm1 UTSW 4 99,843,918 (GRCm39) missense probably damaging 1.00
RF018:Pgm1 UTSW 4 99,819,500 (GRCm39) splice site probably null
Z1176:Pgm1 UTSW 4 99,836,194 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2015-02-05